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GTR Home > Conditions/Phenotypes > Neurodevelopmental disorder with midbrain and hindbrain malformations

Neurodevelopmental disorder with midbrain and hindbrain malformations

Summary

Neurodevelopmental disorder with midbrain and hindbrain malformations (NEDMHM) is an autosomal recessive disorder comprising impaired intellectual development, speech delay, mild microcephaly, and midbrain-hindbrain malformation (Ravindran et al., 2017). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GEF, GEF-H1, GEFH1, LFP40, Lfc, NEDMHM, P40, ARHGEF2
    Summary: Rho/Rac guanine nucleotide exchange factor 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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